chr12-109388790-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001101421.4(MYO1H):c.120C>A(p.Ser40Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000527 in 1,613,010 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 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 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MYO1H | NM_001101421.4 | c.120C>A | p.Ser40Arg | missense_variant | Exon 2 of 32 | ENST00000310903.10 | NP_001094891.4 | |
MYO1H | XM_011538223.3 | c.72C>A | p.Ser24Arg | missense_variant | Exon 3 of 34 | XP_011536525.1 | ||
MYO1H | XM_047428738.1 | c.72C>A | p.Ser24Arg | missense_variant | Exon 1 of 31 | XP_047284694.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MYO1H | ENST00000310903.10 | c.120C>A | p.Ser40Arg | missense_variant | Exon 2 of 32 | 5 | NM_001101421.4 | ENSP00000439182.2 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152148Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000161 AC: 4AN: 248908Hom.: 0 AF XY: 0.00000741 AC XY: 1AN XY: 135032
GnomAD4 exome AF: 0.0000561 AC: 82AN: 1460862Hom.: 0 Cov.: 30 AF XY: 0.0000509 AC XY: 37AN XY: 726698
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152148Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74314
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.72C>A (p.S24R) alteration is located in exon 1 (coding exon 1) of the MYO1H gene. This alteration results from a C to A substitution at nucleotide position 72, causing the serine (S) at amino acid position 24 to be replaced by an arginine (R). 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