chr11-61766208-C-T
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 3P and 4B. PM2PP2BP4_Strong
The NM_001127392.3(MYRF):c.385C>T(p.Pro129Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000206 in 1,455,362 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001127392.3 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 |
---|---|---|---|---|---|---|---|
MYRF | NM_001127392.3 | c.385C>T | p.Pro129Ser | missense_variant | 3/27 | ENST00000278836.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYRF | ENST00000278836.10 | c.385C>T | p.Pro129Ser | missense_variant | 3/27 | 1 | NM_001127392.3 | P2 | |
MYRF | ENST00000265460.9 | c.358C>T | p.Pro120Ser | missense_variant | 3/26 | 1 | A2 | ||
MYRF | ENST00000675319.1 | c.94C>T | p.Pro32Ser | missense_variant | 1/23 | ||||
MYRF | ENST00000537766.1 | n.733C>T | non_coding_transcript_exon_variant | 2/2 | 3 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1455362Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 724274
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
Encephalitis/encephalopathy, mild, with reversible myelin vacuolization;C4748946:Cardiac-urogenital syndrome Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | New York Genome Center | Aug 13, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at