18-49936289-G-C
Variant summary
Our verdict is Pathogenic. Variant got 10 ACMG points: 10P and 0B. PM1PM2PM5PP3_Strong
The NM_001080467.3(MYO5B):c.1966C>G(p.Arg656Gly) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000482 in 1,451,680 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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. R656C) has been classified as Uncertain significance.
Frequency
Consequence
NM_001080467.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYO5B | NM_001080467.3 | c.1966C>G | p.Arg656Gly | missense_variant | 16/40 | ENST00000285039.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYO5B | ENST00000285039.12 | c.1966C>G | p.Arg656Gly | missense_variant | 16/40 | 1 | NM_001080467.3 | P1 | |
MYO5B | ENST00000697219.1 | c.1765C>G | p.Arg589Gly | missense_variant | 14/38 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.0000129 AC: 3AN: 232288Hom.: 0 AF XY: 0.00000797 AC XY: 1AN XY: 125420
GnomAD4 exome AF: 0.00000482 AC: 7AN: 1451680Hom.: 0 Cov.: 31 AF XY: 0.00000416 AC XY: 3AN XY: 720860
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at