11-61766100-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP2BP4_Moderate
The NM_001127392.3(MYRF):c.277C>T(p.Pro93Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P93L) has been classified as Uncertain significance.
Frequency
Consequence
NM_001127392.3 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 |
---|---|---|---|---|---|---|---|---|---|---|
MYRF | ENST00000278836.10 | c.277C>T | p.Pro93Ser | missense_variant | Exon 3 of 27 | 1 | NM_001127392.3 | ENSP00000278836.4 | ||
MYRF | ENST00000265460.9 | c.250C>T | p.Pro84Ser | missense_variant | Exon 3 of 26 | 1 | ENSP00000265460.5 | |||
MYRF | ENST00000537766.1 | n.625C>T | non_coding_transcript_exon_variant | Exon 2 of 2 | 3 | |||||
MYRF | ENST00000675319.1 | c.-18C>T | upstream_gene_variant | ENSP00000502795.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not provided Uncertain:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.