9-110695446-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_005592.4(MUSK):āc.402G>Cā(p.Glu134Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000721 in 1,386,614 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. Synonymous variant affecting the same amino acid position (i.e. E134E) has been classified as Benign.
Frequency
Consequence
NM_005592.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MUSK | ENST00000374448.9 | c.402G>C | p.Glu134Asp | missense_variant | Exon 4 of 15 | 5 | NM_005592.4 | ENSP00000363571.4 | ||
MUSK | ENST00000416899.7 | c.402G>C | p.Glu134Asp | missense_variant | Exon 4 of 14 | 5 | ENSP00000393608.3 | |||
MUSK | ENST00000189978.10 | c.402G>C | p.Glu134Asp | missense_variant | Exon 4 of 14 | 5 | ENSP00000189978.6 | |||
MUSK | ENST00000374439.1 | c.96G>C | p.Glu32Asp | missense_variant | Exon 2 of 4 | 5 | ENSP00000363562.2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 7.21e-7 AC: 1AN: 1386614Hom.: 0 Cov.: 27 AF XY: 0.00 AC XY: 0AN XY: 686088
GnomAD4 genome Cov.: 33
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.