3-108383733-T-TAAAAACAAAAAAAAAAAA
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_014981.3(MYH15):c.5632-5_5632-4insTTTTTTTTTTTTGTTTTT variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: not found (cov: 29)
Consequence
MYH15
NM_014981.3 splice_region, intron
NM_014981.3 splice_region, intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.240
Genes affected
MYH15 (HGNC:31073): (myosin heavy chain 15) Predicted to enable several functions, including ATP binding activity; actin filament binding activity; and calmodulin binding activity. Predicted to be involved in extraocular skeletal muscle development. Located in cytosol and intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MYH15 | NM_014981.3 | c.5632-5_5632-4insTTTTTTTTTTTTGTTTTT | splice_region_variant, intron_variant | Intron 39 of 40 | ENST00000693548.1 | NP_055796.2 | ||
MYH15 | XM_011512559.3 | c.5692-5_5692-4insTTTTTTTTTTTTGTTTTT | splice_region_variant, intron_variant | Intron 41 of 42 | XP_011510861.1 | |||
LOC124900545 | XR_007095998.1 | n.112+2087_112+2088insCAAAAAAAAAAAAAAAAA | intron_variant | Intron 1 of 1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MYH15 | ENST00000693548.1 | c.5632-5_5632-4insTTTTTTTTTTTTGTTTTT | splice_region_variant, intron_variant | Intron 39 of 40 | NM_014981.3 | ENSP00000508967.1 | ||||
MYH15 | ENST00000273353.5 | c.5632-5_5632-4insTTTTTTTTTTTTGTTTTT | splice_region_variant, intron_variant | Intron 40 of 41 | 1 | ENSP00000273353.4 | ||||
MYH15 | ENST00000689784.1 | c.4651-5_4651-4insTTTTTTTTTTTTGTTTTT | splice_region_variant, intron_variant | Intron 31 of 32 | ENSP00000509841.1 |
Frequencies
GnomAD3 genomes Cov.: 29
GnomAD3 genomes
Cov.:
29
GnomAD4 exome Cov.: 31
GnomAD4 exome
Cov.:
31
GnomAD4 genome Cov.: 29
GnomAD4 genome
Cov.:
29
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at