chr9-110800578-G-A
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP6
The NM_005592.4(MUSK):c.2200G>A(p.Gly734Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000428 in 1,613,406 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Synonymous variant affecting the same amino acid position (i.e. G734G) has been classified as Likely benign.
Frequency
Consequence
NM_005592.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MUSK | NM_005592.4 | c.2200G>A | p.Gly734Ser | missense_variant | 15/15 | ENST00000374448.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MUSK | ENST00000374448.9 | c.2200G>A | p.Gly734Ser | missense_variant | 15/15 | 5 | NM_005592.4 | P4 | |
MUSK | ENST00000416899.7 | c.2176G>A | p.Gly726Ser | missense_variant | 14/14 | 5 | A1 | ||
MUSK | ENST00000189978.10 | c.1942G>A | p.Gly648Ser | missense_variant | 14/14 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.000251 AC: 38AN: 151696Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000361 AC: 9AN: 249240Hom.: 0 AF XY: 0.0000370 AC XY: 5AN XY: 135224
GnomAD4 exome AF: 0.0000212 AC: 31AN: 1461710Hom.: 0 Cov.: 32 AF XY: 0.0000165 AC XY: 12AN XY: 727138
GnomAD4 genome ? AF: 0.000251 AC: 38AN: 151696Hom.: 0 Cov.: 32 AF XY: 0.000257 AC XY: 19AN XY: 74032
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 05, 2021 | The c.2200G>A (p.G734S) alteration is located in exon 15 (coding exon 15) of the MUSK gene. This alteration results from a G to A substitution at nucleotide position 2200, causing the glycine (G) at amino acid position 734 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Revvity Omics, Revvity | Nov 15, 2019 | - - |
Fetal akinesia deformation sequence 1;C4225368:Congenital myasthenic syndrome 9 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 09, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at