12-57036985-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_005379.4(MYO1A):c.2162G>T(p.Arg721Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,892 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R721Q) has been classified as Likely benign.
Frequency
Consequence
NM_005379.4 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYO1A | NM_005379.4 | c.2162G>T | p.Arg721Leu | missense_variant | 20/28 | ENST00000300119.8 | |
MYO1A | NM_001256041.2 | c.2162G>T | p.Arg721Leu | missense_variant | 21/29 | ||
MYO1A | XM_047428876.1 | c.2162G>T | p.Arg721Leu | missense_variant | 21/29 | ||
MYO1A | XM_011538373.3 | c.2162G>T | p.Arg721Leu | missense_variant | 20/25 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYO1A | ENST00000300119.8 | c.2162G>T | p.Arg721Leu | missense_variant | 20/28 | 1 | NM_005379.4 | P1 | |
MYO1A | ENST00000442789.6 | c.2162G>T | p.Arg721Leu | missense_variant | 21/29 | 1 | P1 | ||
MYO1A | ENST00000554234.5 | c.1676G>T | p.Arg559Leu | missense_variant, NMD_transcript_variant | 16/24 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461892Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 727248
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at