rs767265712
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001382347.1(MYO5A):c.5495G>A(p.Arg1832His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000116 in 1,461,678 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001382347.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MYO5A | NM_001382347.1 | c.5495G>A | p.Arg1832His | missense_variant | Exon 42 of 42 | ENST00000399233.7 | NP_001369276.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000402 AC: 1AN: 248852Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135126
GnomAD4 exome AF: 0.0000116 AC: 17AN: 1461678Hom.: 0 Cov.: 31 AF XY: 0.0000124 AC XY: 9AN XY: 727150
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.5420G>A (p.R1807H) alteration is located in exon 41 (coding exon 41) of the MYO5A gene. This alteration results from a G to A substitution at nucleotide position 5420, causing the arginine (R) at amino acid position 1807 to be replaced by a histidine (H). 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