15-52313728-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001382347.1(MYO5A):āc.5611A>Gā(p.Ser1871Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000991 in 1,614,054 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001382347.1 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
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.5611A>G | p.Ser1871Gly | missense_variant | Exon 42 of 42 | ENST00000399233.7 | NP_001369276.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152202Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249384Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135296
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1461852Hom.: 0 Cov.: 31 AF XY: 0.00000963 AC XY: 7AN XY: 727234
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152202Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74360
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.5536A>G (p.S1846G) alteration is located in exon 41 (coding exon 41) of the MYO5A gene. This alteration results from a A to G substitution at nucleotide position 5536, causing the serine (S) at amino acid position 1846 to be replaced by a glycine (G). 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