rs41279051
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005592.4(MUSK):c.537C>A(p.Asn179Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,460,410 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. 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. N179Y) has been classified as Uncertain significance.
Frequency
Consequence
NM_005592.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MUSK | NM_005592.4 | c.537C>A | p.Asn179Lys | missense_variant | 5/15 | ENST00000374448.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MUSK | ENST00000374448.9 | c.537C>A | p.Asn179Lys | missense_variant | 5/15 | 5 | NM_005592.4 | P4 | |
MUSK | ENST00000416899.7 | c.537C>A | p.Asn179Lys | missense_variant | 5/14 | 5 | A1 | ||
MUSK | ENST00000189978.10 | c.537C>A | p.Asn179Lys | missense_variant | 5/14 | 5 | |||
MUSK | ENST00000374439.1 | c.231C>A | p.Asn77Lys | missense_variant | 3/4 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD3 exomes AF: 0.00000403 AC: 1AN: 248244Hom.: 0 AF XY: 0.00000742 AC XY: 1AN XY: 134710
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1460410Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726492
GnomAD4 genome ? Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at