12-109401237-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001101421.4(MYO1H):āc.715G>Cā(p.Glu239Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000533 in 1,613,182 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001101421.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MYO1H | NM_001101421.4 | c.715G>C | p.Glu239Gln | missense_variant | Exon 6 of 32 | ENST00000310903.10 | NP_001094891.4 | |
MYO1H | XM_011538223.3 | c.667G>C | p.Glu223Gln | missense_variant | Exon 7 of 34 | XP_011536525.1 | ||
MYO1H | XM_047428738.1 | c.667G>C | p.Glu223Gln | missense_variant | Exon 5 of 31 | XP_047284694.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MYO1H | ENST00000310903.10 | c.715G>C | p.Glu239Gln | missense_variant | Exon 6 of 32 | 5 | NM_001101421.4 | ENSP00000439182.2 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152056Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000970 AC: 24AN: 247532Hom.: 0 AF XY: 0.000142 AC XY: 19AN XY: 134268
GnomAD4 exome AF: 0.0000561 AC: 82AN: 1461010Hom.: 0 Cov.: 30 AF XY: 0.0000688 AC XY: 50AN XY: 726714
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152172Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74388
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.667G>C (p.E223Q) alteration is located in exon 5 (coding exon 5) of the MYO1H gene. This alteration results from a G to C substitution at nucleotide position 667, causing the glutamic acid (E) at amino acid position 223 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