rs750101214
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM1PM2
The NM_005592.4(MUSK):c.218C>A(p.Thr73Asn) variant causes a missense change. The variant allele was found at a frequency of 0.00000342 in 1,461,094 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T73A) has been classified as Uncertain significance.
Frequency
Consequence
NM_005592.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MUSK | NM_005592.4 | c.218C>A | p.Thr73Asn | missense_variant | 3/15 | ENST00000374448.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MUSK | ENST00000374448.9 | c.218C>A | p.Thr73Asn | missense_variant | 3/15 | 5 | NM_005592.4 | P4 | |
MUSK | ENST00000416899.7 | c.218C>A | p.Thr73Asn | missense_variant | 3/14 | 5 | A1 | ||
MUSK | ENST00000189978.10 | c.218C>A | p.Thr73Asn | missense_variant | 3/14 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD3 exomes AF: 0.00000402 AC: 1AN: 248498Hom.: 0 AF XY: 0.00000742 AC XY: 1AN XY: 134774
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461094Hom.: 0 Cov.: 31 AF XY: 0.00000550 AC XY: 4AN XY: 726840
GnomAD4 genome ? Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at