rs201793413
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001101421.4(MYO1H):c.515G>A(p.Arg172Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000763 in 1,611,986 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001101421.4 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 |
---|---|---|---|---|---|---|---|---|
MYO1H | NM_001101421.4 | c.515G>A | p.Arg172Gln | missense_variant | Exon 5 of 32 | ENST00000310903.10 | NP_001094891.4 | |
MYO1H | XM_011538223.3 | c.467G>A | p.Arg156Gln | missense_variant | Exon 6 of 34 | XP_011536525.1 | ||
MYO1H | XM_047428738.1 | c.467G>A | p.Arg156Gln | missense_variant | Exon 4 of 31 | XP_047284694.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MYO1H | ENST00000310903.10 | c.515G>A | p.Arg172Gln | missense_variant | Exon 5 of 32 | 5 | NM_001101421.4 | ENSP00000439182.2 |
Frequencies
GnomAD3 genomes AF: 0.0000920 AC: 14AN: 152152Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000728 AC: 18AN: 247310Hom.: 0 AF XY: 0.0000969 AC XY: 13AN XY: 134166
GnomAD4 exome AF: 0.0000747 AC: 109AN: 1459716Hom.: 0 Cov.: 29 AF XY: 0.0000675 AC XY: 49AN XY: 726144
GnomAD4 genome AF: 0.0000919 AC: 14AN: 152270Hom.: 0 Cov.: 31 AF XY: 0.0000672 AC XY: 5AN XY: 74452
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.467G>A (p.R156Q) alteration is located in exon 4 (coding exon 4) of the MYO1H gene. This alteration results from a G to A substitution at nucleotide position 467, causing the arginine (R) at amino acid position 156 to be replaced by a glutamine (Q). 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