12-109393400-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001101421.4(MYO1H):āc.244A>Gā(p.Met82Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000189 in 1,588,784 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001101421.4 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 |
---|---|---|---|---|---|---|---|---|
MYO1H | NM_001101421.4 | c.244A>G | p.Met82Val | missense_variant | Exon 3 of 32 | ENST00000310903.10 | NP_001094891.4 | |
MYO1H | XM_011538223.3 | c.196A>G | p.Met66Val | missense_variant | Exon 4 of 34 | XP_011536525.1 | ||
MYO1H | XM_047428738.1 | c.196A>G | p.Met66Val | missense_variant | Exon 2 of 31 | XP_047284694.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MYO1H | ENST00000310903.10 | c.244A>G | p.Met82Val | missense_variant | Exon 3 of 32 | 5 | NM_001101421.4 | ENSP00000439182.2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152158Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000520 AC: 11AN: 211626Hom.: 0 AF XY: 0.0000706 AC XY: 8AN XY: 113306
GnomAD4 exome AF: 0.0000202 AC: 29AN: 1436508Hom.: 0 Cov.: 30 AF XY: 0.0000281 AC XY: 20AN XY: 711918
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152276Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74472
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.196A>G (p.M66V) alteration is located in exon 2 (coding exon 2) of the MYO1H gene. This alteration results from a A to G substitution at nucleotide position 196, causing the methionine (M) at amino acid position 66 to be replaced by a valine (V). 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