17-75623807-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 1P and 0B. PP3
The NM_001395058.1(MYO15B):āc.8109T>Gā(p.Asp2703Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a pathogenic outcome for this variant. 6/9 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001395058.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MYO15B | NM_001395058.1 | c.8109T>G | p.Asp2703Glu | missense_variant | Exon 54 of 64 | ENST00000645453.3 | NP_001381987.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MYO15B | ENST00000645453.3 | c.8109T>G | p.Asp2703Glu | missense_variant | Exon 54 of 64 | NM_001395058.1 | ENSP00000495242.3 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 1AN: 151982Hom.: 0 Cov.: 33 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.000195 AC: 107AN: 549598Hom.: 0 Cov.: 0 AF XY: 0.000188 AC XY: 56AN XY: 297578
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000658 AC: 1AN: 151982Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74238
ClinVar
Submissions by phenotype
Congenital myopathy Uncertain:1
The heterozygous p.Asp2703Glu variant in MYO15B was identified by our study in 1 individual with dysphagia, ptosis, increased muscle fatigability, and muscle weakness. This variant was detected in cis with another variant of uncertain significance (p.c.2651+2T>A) in MYO15B. While this gene is still lacking sufficient evidence to establish a gene-disease relationship, we believe this is a possible novel gene candidate for this phenotype. Given the limited information about this gene-disease relationship, the significance of the p.Asp2703Glu variant is uncertain. If you have any additional information about functional evidence or other individuals with this phenotype that also have variants in MYO15B we encourage you to reach out to us. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.