NM_013451.4:c.5959C>T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PP3_ModerateBS2_Supporting
The NM_013451.4(MYOF):c.5959C>T(p.Arg1987Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000223 in 1,613,604 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_013451.4 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 |
---|---|---|---|---|---|---|---|---|---|---|
MYOF | ENST00000359263.9 | c.5959C>T | p.Arg1987Trp | missense_variant | Exon 52 of 54 | 1 | NM_013451.4 | ENSP00000352208.4 | ||
MYOF | ENST00000358334.9 | c.5920C>T | p.Arg1974Trp | missense_variant | Exon 51 of 53 | 1 | ENSP00000351094.5 | |||
MYOF | ENST00000463743.5 | n.*518C>T | non_coding_transcript_exon_variant | Exon 32 of 34 | 5 | ENSP00000432708.1 | ||||
MYOF | ENST00000463743.5 | n.*518C>T | 3_prime_UTR_variant | Exon 32 of 34 | 5 | ENSP00000432708.1 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152148Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000401 AC: 10AN: 249462Hom.: 0 AF XY: 0.0000296 AC XY: 4AN XY: 135346
GnomAD4 exome AF: 0.0000212 AC: 31AN: 1461456Hom.: 0 Cov.: 31 AF XY: 0.0000289 AC XY: 21AN XY: 727006
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152148Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74336
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.5959C>T (p.R1987W) alteration is located in exon 52 (coding exon 52) of the MYOF gene. This alteration results from a C to T substitution at nucleotide position 5959, causing the arginine (R) at amino acid position 1987 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at