rs199675131
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_001382347.1(MYO5A):c.5471C>T(p.Ser1824Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000346 in 1,609,896 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_001382347.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MYO5A | NM_001382347.1 | c.5471C>T | p.Ser1824Leu | missense_variant | Exon 41 of 42 | ENST00000399233.7 | NP_001369276.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000421 AC: 64AN: 152158Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000702 AC: 175AN: 249254Hom.: 0 AF XY: 0.000665 AC XY: 90AN XY: 135254
GnomAD4 exome AF: 0.000338 AC: 493AN: 1457620Hom.: 2 Cov.: 29 AF XY: 0.000324 AC XY: 235AN XY: 725372
GnomAD4 genome AF: 0.000420 AC: 64AN: 152276Hom.: 0 Cov.: 33 AF XY: 0.000604 AC XY: 45AN XY: 74450
ClinVar
Submissions by phenotype
MYO5A-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at